Canonical Allele Identifier: CA370071421
Gene: PRKAG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151568724G>T , CM000669.2:g.151568724G>T GRCh38
NC_000007.13:g.151265810G>T , CM000669.1:g.151265810G>T GRCh37
NC_000007.12:g.150896743G>T NCBI36
NG_007486.1:g.313507C>A
NG_007486.2:g.313508C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478989.7:c.499C>A ENSP00000420645.3:p.Gln167Lys
ENST00000652321.2:c.1222C>A ENSP00000498886.2:p.Gln408Lys
ENST00000287878.9:c.1225C>A MANE Select ENSP00000287878.3:p.Gln409Lys
ENST00000476632.2:c.502C>A ENSP00000419493.2:p.Gln168Lys
ENST00000478989.6:c.285C>A
ENST00000492843.6:c.850C>A ENSP00000419577.2:p.Gln284Lys
ENST00000650851.1:n.719C>A
ENST00000650858.1:c.442C>A ENSP00000498384.1:p.Gln148Lys
ENST00000650948.1:n.1340C>A
ENST00000651188.1:c.*346+1447C>A ENSP00000498557.1:n.*346+1447C>A
ENST00000651303.1:c.*544C>A ENSP00000498428.1:n.*544C>A
ENST00000651378.1:c.502C>A ENSP00000499103.1:p.Gln168Lys
ENST00000651764.1:c.1093C>A ENSP00000498796.1:p.Gln365Lys
ENST00000651836.1:c.993C>A ENSP00000499156.1:n.993C>A
ENST00000652047.1:c.1090C>A ENSP00000499111.1:p.Gln364Lys
ENST00000652136.1:n.958C>A
ENST00000652159.1:c.1093C>A ENSP00000499025.1:p.Gln365Lys
ENST00000652397.1:c.502C>A ENSP00000498351.1:p.Gln168Lys
ENST00000287878.8:c.1225C>A ENSP00000287878.3:p.Gln409Lys
ENST00000392801.6:c.1093C>A ENSP00000376549.2:p.Gln365Lys
ENST00000418337.6:c.502C>A ENSP00000387386.2:p.Gln168Lys
ENST00000478989.5:c.277C>A ENSP00000420645.1:p.Gln93Lys
ENST00000488258.5:c.*465C>A ENSP00000420783.1:n.*465C>A
ENST00000492843.5:c.853C>A ENSP00000419577.1:p.Gln285Lys
NM_001040633.1:c.1093C>A NP_001035723.1:p.Gln365Lys
NM_001304527.1:c.850C>A NP_001291456.1:p.Gln284Lys
NM_001304531.1:c.502C>A NP_001291460.1:p.Gln168Lys
NM_016203.3:c.1225C>A NP_057287.2:p.Gln409Lys
NM_024429.1:c.502C>A NP_077747.1:p.Gln168Lys
XM_005250002.2:c.1225C>A XP_005250059.1:p.Gln409Lys
XM_005250004.2:c.1093C>A XP_005250061.1:p.Gln365Lys
XM_005250006.3:c.853C>A XP_005250063.1:p.Gln285Lys
XM_006716021.2:c.1213C>A XP_006716084.1:p.Gln405Lys
XM_011516282.1:c.1210C>A XP_011514584.1:p.Gln404Lys
XM_011516283.1:c.1213C>A XP_011514585.1:p.Gln405Lys
XM_011516284.1:c.1210C>A XP_011514586.1:p.Gln404Lys
XM_011516285.1:c.502C>A XP_011514587.1:p.Gln168Lys
XM_011516286.1:c.478C>A XP_011514588.1:p.Gln160Lys
XM_011516287.1:c.442C>A XP_011514589.1:p.Gln148Lys
NM_001363698.1:c.853C>A NP_001350627.1:p.Gln285Lys
XM_005250002.4:c.1225C>A XP_005250059.1:p.Gln409Lys
XM_005250004.4:c.1093C>A XP_005250061.1:p.Gln365Lys
XM_005250006.5:c.853C>A XP_005250063.1:p.Gln285Lys
XM_011516285.2:c.502C>A XP_011514587.1:p.Gln168Lys
XM_011516286.2:c.478C>A XP_011514588.1:p.Gln160Lys
XM_017012268.2:c.1090C>A XP_016867757.1:p.Gln364Lys
XM_017012269.1:c.1222C>A XP_016867758.1:p.Gln408Lys
XM_017012270.1:c.1093C>A XP_016867759.1:p.Gln365Lys
XM_017012271.2:c.1090C>A XP_016867760.1:p.Gln364Lys
XM_017012272.1:c.1090C>A XP_016867761.1:p.Gln364Lys
XM_017012274.2:c.499C>A XP_016867763.1:p.Gln167Lys
XM_017012275.2:c.442C>A XP_016867764.1:p.Gln148Lys
XM_017012276.2:c.499C>A XP_016867765.1:p.Gln167Lys
XM_017012277.2:c.478C>A XP_016867766.1:p.Gln160Lys
XM_017012278.1:c.442C>A XP_016867767.1:p.Gln148Lys
XM_017012279.2:c.442C>A XP_016867768.1:p.Gln148Lys
XM_017012280.2:c.442C>A XP_016867769.1:p.Gln148Lys
XM_017012281.2:c.442C>A XP_016867770.1:p.Gln148Lys
XM_024446786.1:c.1093C>A XP_024302554.1:p.Gln365Lys
XM_024446787.1:c.502C>A XP_024302555.1:p.Gln168Lys
XM_024446788.1:c.499C>A XP_024302556.1:p.Gln167Lys
XM_024446789.1:c.502C>A XP_024302557.1:p.Gln168Lys
NM_016203.4:c.1225C>A MANE Select NP_057287.2:p.Gln409Lys
NM_001040633.2:c.1093C>A NP_001035723.1:p.Gln365Lys
NM_001304527.2:c.850C>A NP_001291456.1:p.Gln284Lys
NM_001304531.2:c.502C>A NP_001291460.1:p.Gln168Lys
NM_001363698.2:c.853C>A NP_001350627.1:p.Gln285Lys
NM_024429.2:c.502C>A NP_077747.1:p.Gln168Lys